DOOR or DOORS syndrome is one of the phenotypes for a mutation inTBC1D24.
Chromosome location: 16p13.3
Gene: TBC1D24 (TBC1 domain family member 24)
D: deafness (sensorineural)
O: onychodystrophy (small or absent nails)
O: osteodystrophy (hypoplastic terminal phalanges; triphalangeal thumb)
R: mental retardation (intellectual and developmental delay)
S: seizures
There is a deficiency of the E1 component of the 2-oxoglutarate decarboxylase complex, resulting in increased 2-oxoglutarate in the urine.
Additional findings may include:
(1) microcephaly
(2) cranial anomalies
(3) dental anomalies
(4) congenital heart disease
(5) hypothyroidism
(6) urinary tract anomalies
(7) visual impairment
(8) peripheral neuropathy
(9) skeletal anomalies
